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Volumn 135, Issue 5, 2015, Pages 1384-1390.e8

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

Author keywords

[No Author keywords available]

Indexed keywords

BUDESONIDE; CALGRANULIN; CD3 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; CORTICOSTEROID; ELASTASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; MYCOPHENOLATE MOFETIL; RITUXIMAB; ROMIPLOSTIM; THROMBOCYTE ANTIBODY; VINCRISTINE; LRBA PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

EID: 84943819670     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.10.048     Document Type: Article
Times cited : (59)

References (47)
  • 1
    • 84864461405 scopus 로고    scopus 로고
    • LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
    • A. Alangari, A. Alsultan, N. Adly, M.J. Massaad, I.S. Kiani, A. Aljebreen, and et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency J Allergy Clin Immunol 130 2012 481 488.e2
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 481-488e2
    • Alangari, A.1    Alsultan, A.2    Adly, N.3    Massaad, M.J.4    Kiani, I.S.5    Aljebreen, A.6
  • 2
    • 84870296631 scopus 로고    scopus 로고
    • LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
    • S.O. Burns, H.L. Zenner, V. Plagnol, J. Curtis, K. Mok, M. Eisenhut, and et al. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia J Allergy Clin Immunol 130 2012 1428 1432
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 1428-1432
    • Burns, S.O.1    Zenner, H.L.2    Plagnol, V.3    Curtis, J.4    Mok, K.5    Eisenhut, M.6
  • 6
    • 0014097538 scopus 로고
    • Chronic lymphadenopathy simulating malignant lymphoma
    • V.C. Canale, and C.H. Smith Chronic lymphadenopathy simulating malignant lymphoma J Pediatr 70 1967 891 899
    • (1967) J Pediatr , vol.70 , pp. 891-899
    • Canale, V.C.1    Smith, C.H.2
  • 7
    • 84897531867 scopus 로고    scopus 로고
    • Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations
    • S. Price, P.A. Shaw, A. Seitz, G. Joshi, J. Davis, J.E. Niemela, and et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations Blood 123 2014 1989 1999
    • (2014) Blood , vol.123 , pp. 1989-1999
    • Price, S.1    Shaw, P.A.2    Seitz, A.3    Joshi, G.4    Davis, J.5    Niemela, J.E.6
  • 8
    • 84898467110 scopus 로고    scopus 로고
    • High response rate but short-term effect of romiplostim in paediatric refractory chronic immune thrombocytopenia
    • M.G. Seidel, C. Urban, J. Sipurzynski, C. Beham-Schmid, H. Lackner, and M. Benesch High response rate but short-term effect of romiplostim in paediatric refractory chronic immune thrombocytopenia Br J Haematol 165 2014 419 421
    • (2014) Br J Haematol , vol.165 , pp. 419-421
    • Seidel, M.G.1    Urban, C.2    Sipurzynski, J.3    Beham-Schmid, C.4    Lackner, H.5    Benesch, M.6
  • 9
    • 67849083083 scopus 로고    scopus 로고
    • HomozygosityMapper - An interactive approach to homozygosity mapping
    • D. Seelow, M. Schuelke, F. Hildebrandt, and P. Nurnberg HomozygosityMapper - an interactive approach to homozygosity mapping Nucleic Acids Res 37 2009 W593 W599
    • (2009) Nucleic Acids Res , vol.37 , pp. W593-W599
    • Seelow, D.1    Schuelke, M.2    Hildebrandt, F.3    Nurnberg, P.4
  • 11
    • 13144261691 scopus 로고    scopus 로고
    • FOXP3 acts as a rheostat of the immune response
    • H.D. Ochs, S.F. Ziegler, and T.R. Torgerson FOXP3 acts as a rheostat of the immune response Immunol Rev 203 2005 156 164
    • (2005) Immunol Rev , vol.203 , pp. 156-164
    • Ochs, H.D.1    Ziegler, S.F.2    Torgerson, T.R.3
  • 12
    • 74049110516 scopus 로고    scopus 로고
    • Checkpoints in lymphocyte development and autoimmune disease
    • H. von Boehmer, and F. Melchers Checkpoints in lymphocyte development and autoimmune disease Nat Immunol 11 2010 14 20
    • (2010) Nat Immunol , vol.11 , pp. 14-20
    • Von Boehmer, H.1    Melchers, F.2
  • 13
    • 84855332531 scopus 로고    scopus 로고
    • The establishment of early B cell tolerance in humans: Lessons from primary immunodeficiency diseases
    • E. Meffre The establishment of early B cell tolerance in humans: lessons from primary immunodeficiency diseases Ann N Y Acad Sci 1246 2011 1 10
    • (2011) Ann N y Acad Sci , vol.1246 , pp. 1-10
    • Meffre, E.1
  • 14
    • 84883643725 scopus 로고    scopus 로고
    • Neutrophilic myeloid-derived suppressor cells in cord blood modulate innate and adaptive immune responses
    • N. Rieber, C. Gille, N. Kostlin, I. Schafer, B. Spring, M. Ost, and et al. Neutrophilic myeloid-derived suppressor cells in cord blood modulate innate and adaptive immune responses Clin Exp Immunol 174 2013 45 52
    • (2013) Clin Exp Immunol , vol.174 , pp. 45-52
    • Rieber, N.1    Gille, C.2    Kostlin, N.3    Schafer, I.4    Spring, B.5    Ost, M.6
  • 16
    • 82555179335 scopus 로고    scopus 로고
    • Ten warning signs of primary immunodeficiency: A new paradigm is needed for the 21st century
    • P.D. Arkwright, and A.R. Gennery Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century Ann N Y Acad Sci 1238 2011 7 14
    • (2011) Ann N y Acad Sci , vol.1238 , pp. 7-14
    • Arkwright, P.D.1    Gennery, A.R.2
  • 18
    • 84900846113 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
    • W. Al-Herz, A. Bousfiha, J.L. Casanova, T. Chatila, M.E. Conley, C. Cunningham-Rundles, and et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency Front Immunol 5 2014 162
    • (2014) Front Immunol , vol.5 , pp. 162
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.L.3    Chatila, T.4    Conley, M.E.5    Cunningham-Rundles, C.6
  • 19
    • 84948709518 scopus 로고    scopus 로고
    • Accessed November 29, 2014
    • ESID Online Registry. Available at: http://esid.org/Working-Parties/Registry/ESID-Online-Registry. Accessed November 29, 2014.
    • ESID Online Registry
  • 21
    • 84864461405 scopus 로고    scopus 로고
    • LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
    • A. Alangari, A. Alsultan, N. Adly, M.J. Massaad, I.S. Kiani, A. Aljebreen, and et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency J Allergy Clin Immunol 130 2012 481 488.e2
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 481-488e2
    • Alangari, A.1    Alsultan, A.2    Adly, N.3    Massaad, M.J.4    Kiani, I.S.5    Aljebreen, A.6
  • 22
    • 84870296631 scopus 로고    scopus 로고
    • LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
    • S.O. Burns, H.L. Zenner, V. Plagnol, J. Curtis, K. Mok, M. Eisenhut, and et al. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia J Allergy Clin Immunol 130 2012 1428 1432
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 1428-1432
    • Burns, S.O.1    Zenner, H.L.2    Plagnol, V.3    Curtis, J.4    Mok, K.5    Eisenhut, M.6
  • 23
    • 0035313273 scopus 로고    scopus 로고
    • Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins
    • J.W. Wang, J. Howson, E. Haller, and W.G. Kerr Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins J Immunol 166 2001 4586 4595
    • (2001) J Immunol , vol.166 , pp. 4586-4595
    • Wang, J.W.1    Howson, J.2    Haller, E.3    Kerr, W.G.4
  • 24
    • 9744227116 scopus 로고    scopus 로고
    • Crystal structure of the PH-BEACH domains of human LRBA/BGL
    • D. Gebauer, J. Li, G. Jogl, Y. Shen, D.G. Myszka, and L. Tong Crystal structure of the PH-BEACH domains of human LRBA/BGL Biochemistry 43 2004 14873 14880
    • (2004) Biochemistry , vol.43 , pp. 14873-14880
    • Gebauer, D.1    Li, J.2    Jogl, G.3    Shen, Y.4    Myszka, D.G.5    Tong, L.6
  • 27
    • 44449097509 scopus 로고    scopus 로고
    • Autoimmune manifestations in common variable immunodeficiency
    • C. Cunningham-Rundles Autoimmune manifestations in common variable immunodeficiency J Clin Immunol 28 suppl 1 2008 S42 S45
    • (2008) J Clin Immunol , vol.28 , pp. S42-S45
    • Cunningham-Rundles, C.1
  • 28
    • 38049105639 scopus 로고    scopus 로고
    • The EUROclass trial: Defining subgroups in common variable immunodeficiency
    • C. Wehr, T. Kivioja, C. Schmitt, B. Ferry, T. Witte, E. Eren, and et al. The EUROclass trial: defining subgroups in common variable immunodeficiency Blood 111 2008 77 85
    • (2008) Blood , vol.111 , pp. 77-85
    • Wehr, C.1    Kivioja, T.2    Schmitt, C.3    Ferry, B.4    Witte, T.5    Eren, E.6
  • 29
    • 80053445181 scopus 로고    scopus 로고
    • "A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?
    • P.F. Yong, J.E. Thaventhiran, and B. Grimbacher "A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011? Adv Immunol 111 2011 47 107
    • (2011) Adv Immunol , vol.111 , pp. 47-107
    • Yong, P.F.1    Thaventhiran, J.E.2    Grimbacher, B.3
  • 30
    • 55149106946 scopus 로고    scopus 로고
    • Allogeneic hematopoietic stem cell transplantation for severe autoimmune diseases
    • A. Gratwohl Allogeneic hematopoietic stem cell transplantation for severe autoimmune diseases Autoimmunity 41 2008 673 678
    • (2008) Autoimmunity , vol.41 , pp. 673-678
    • Gratwohl, A.1
  • 31
    • 84866174558 scopus 로고    scopus 로고
    • Transplantation for autoimmune diseases in north and South America: A report of the Center for International Blood and Marrow Transplant Research
    • M.C. Pasquini, J. Voltarelli, H.L. Atkins, N. Hamerschlak, X. Zhong, K.W. Ahn, and et al. Transplantation for autoimmune diseases in north and South America: a report of the Center for International Blood and Marrow Transplant Research Biol Blood Marrow Transplant 18 2012 1471 1478
    • (2012) Biol Blood Marrow Transplant , vol.18 , pp. 1471-1478
    • Pasquini, M.C.1    Voltarelli, J.2    Atkins, H.L.3    Hamerschlak, N.4    Zhong, X.5    Ahn, K.W.6
  • 32
    • 3042588237 scopus 로고    scopus 로고
    • Haematopoetic stem cell transplantation for refractory autoimmune cytopenia
    • J.R. Passweg, M. Rabusin, M. Musso, Y. Beguin, S. Cesaro, G. Ehninger, and et al. Haematopoetic stem cell transplantation for refractory autoimmune cytopenia Br J Haematol 125 2004 749 755
    • (2004) Br J Haematol , vol.125 , pp. 749-755
    • Passweg, J.R.1    Rabusin, M.2    Musso, M.3    Beguin, Y.4    Cesaro, S.5    Ehninger, G.6
  • 33
    • 68949097506 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for pediatric autoimmune disease: Where we stand and where we need to go
    • A.C. Krauss, and N.R. Kamani Hematopoietic stem cell transplantation for pediatric autoimmune disease: where we stand and where we need to go Bone Marrow Transplant 44 2009 137 143
    • (2009) Bone Marrow Transplant , vol.44 , pp. 137-143
    • Krauss, A.C.1    Kamani, N.R.2
  • 34
    • 84859265811 scopus 로고    scopus 로고
    • Changing winds in refractory autoimmune disease in children: Clearing the road for tolerance with cellular therapies
    • J.F. Swart, C.A. Lindemans, A. van Royen, J.J. Boelens, B.J. Prakken, and N. Wulffraat Changing winds in refractory autoimmune disease in children: clearing the road for tolerance with cellular therapies Curr Opin Rheumatol 24 2012 267 273
    • (2012) Curr Opin Rheumatol , vol.24 , pp. 267-273
    • Swart, J.F.1    Lindemans, C.A.2    Van Royen, A.3    Boelens, J.J.4    Prakken, B.J.5    Wulffraat, N.6
  • 35
    • 33748347926 scopus 로고    scopus 로고
    • Immune reconstitution after purified autologous and allogeneic blood stem cell transplantation compared with unmanipulated bone marrow transplantation in children
    • W. Schwinger, D. Weber-Mzell, B. Zois, T. Rojacher, M. Benesch, H. Lackner, and et al. Immune reconstitution after purified autologous and allogeneic blood stem cell transplantation compared with unmanipulated bone marrow transplantation in children Br J Haematol 135 2006 76 84
    • (2006) Br J Haematol , vol.135 , pp. 76-84
    • Schwinger, W.1    Weber-Mzell, D.2    Zois, B.3    Rojacher, T.4    Benesch, M.5    Lackner, H.6
  • 36
    • 77449088545 scopus 로고    scopus 로고
    • Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels
    • K.G. Schmetterer, M.G. Seidel, U. Kormoczi, A. Rottal, K. Schwarz, S. Matthes-Martin, and et al. Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels Int Arch Allergy Immunol 152 2010 390 400
    • (2010) Int Arch Allergy Immunol , vol.152 , pp. 390-400
    • Schmetterer, K.G.1    Seidel, M.G.2    Kormoczi, U.3    Rottal, A.4    Schwarz, K.5    Matthes-Martin, S.6
  • 37
    • 78149279867 scopus 로고    scopus 로고
    • Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency
    • A. Rensing-Ehl, K. Warnatz, S. Fuchs, M. Schlesier, U. Salzer, R. Draeger, and et al. Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency Clin Immunol 137 2010 357 365
    • (2010) Clin Immunol , vol.137 , pp. 357-365
    • Rensing-Ehl, A.1    Warnatz, K.2    Fuchs, S.3    Schlesier, M.4    Salzer, U.5    Draeger, R.6
  • 38
    • 2542548405 scopus 로고    scopus 로고
    • DChipSNP: Significance curve and clustering of SNP-array-based loss-of-heterozygosity data
    • M. Lin, L.J. Wei, W.R. Sellers, M. Lieberfarb, W.H. Wong, and C. Li dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data Bioinformatics 20 2004 1233 1240
    • (2004) Bioinformatics , vol.20 , pp. 1233-1240
    • Lin, M.1    Wei, L.J.2    Sellers, W.R.3    Lieberfarb, M.4    Wong, W.H.5    Li, C.6
  • 39
    • 84855378324 scopus 로고    scopus 로고
    • Autologous hematopoietic stem cell transplantation for autoimmune disease - Is it now ready for prime time?
    • H.L. Atkins, P.A. Muraro, J.M. van Laar, and S.Z. Pavletic Autologous hematopoietic stem cell transplantation for autoimmune disease - is it now ready for prime time? Biol Blood Marrow Transplant 18 suppl 2012 S177 S183
    • (2012) Biol Blood Marrow Transplant , vol.18 , pp. S177-S183
    • Atkins, H.L.1    Muraro, P.A.2    Van Laar, J.M.3    Pavletic, S.Z.4
  • 40
    • 4143103585 scopus 로고    scopus 로고
    • Primary biliary cirrhosis in monozygotic and dizygotic twins: Genetics, epigenetics, and environment
    • C. Selmi, M.J. Mayo, N. Bach, H. Ishibashi, P. Invernizzi, R.G. Gish, and et al. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment Gastroenterology 127 2004 485 492
    • (2004) Gastroenterology , vol.127 , pp. 485-492
    • Selmi, C.1    Mayo, M.J.2    Bach, N.3    Ishibashi, H.4    Invernizzi, P.5    Gish, R.G.6
  • 41
    • 67149095289 scopus 로고    scopus 로고
    • Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants
    • G.M. Hirschfield, X. Liu, C. Xu, Y. Lu, G. Xie, X. Gu, and et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants N Engl J Med 360 2009 2544 2555
    • (2009) N Engl J Med , vol.360 , pp. 2544-2555
    • Hirschfield, G.M.1    Liu, X.2    Xu, C.3    Lu, Y.4    Xie, G.5    Gu, X.6
  • 42
    • 84898011122 scopus 로고    scopus 로고
    • Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis
    • M. Carbone, A. Lleo, R.N. Sandford, and P. Invernizzi Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis Eur J Immunol 44 2014 945 954
    • (2014) Eur J Immunol , vol.44 , pp. 945-954
    • Carbone, M.1    Lleo, A.2    Sandford, R.N.3    Invernizzi, P.4
  • 43
    • 80053131341 scopus 로고    scopus 로고
    • Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency
    • K. Felgentreff, R. Perez-Becker, C. Speckmann, K. Schwarz, K. Kalwak, G. Markelj, and et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency Clin Immunol 141 2011 73 82
    • (2011) Clin Immunol , vol.141 , pp. 73-82
    • Felgentreff, K.1    Perez-Becker, R.2    Speckmann, C.3    Schwarz, K.4    Kalwak, K.5    Markelj, G.6
  • 44
    • 57249097253 scopus 로고    scopus 로고
    • Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity
    • E. Gambineri, L. Perroni, L. Passerini, L. Bianchi, C. Doglioni, F. Meschi, and et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity J Allergy Clin Immunol 122 2008 1105 1112.e1
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1105-1112e1
    • Gambineri, E.1    Perroni, L.2    Passerini, L.3    Bianchi, L.4    Doglioni, C.5    Meschi, F.6
  • 45
    • 84874537855 scopus 로고    scopus 로고
    • Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27
    • E. Salzer, S. Daschkey, S. Choo, M. Gombert, E. Santos-Valente, S. Ginzel, and et al. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27 Haematologica 98 2013 473 478
    • (2013) Haematologica , vol.98 , pp. 473-478
    • Salzer, E.1    Daschkey, S.2    Choo, S.3    Gombert, M.4    Santos-Valente, E.5    Ginzel, S.6
  • 46
    • 84862732229 scopus 로고    scopus 로고
    • Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family
    • M.G. Seidel, B. Rami, C. Item, E. Schober, P. Zeitlhofer, W.D. Huber, and et al. Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family Eur J Endocrinol 167 2012 131 134
    • (2012) Eur J Endocrinol , vol.167 , pp. 131-134
    • Seidel, M.G.1    Rami, B.2    Item, C.3    Schober, E.4    Zeitlhofer, P.5    Huber, W.D.6


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